A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv851n106



Internal ID22794679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93399224..93401824hg38UCSC Ensembl
chr12:93793000..93795600hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115435, nsv1110213
SamplesKWS2, KWS1
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv851n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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